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Author/Creator Coppieters, Frauke

1. An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients. Issue 1 (January 2015)

Authors:
Bauwens, Miriam; De Zaeytijd, Julie; Weisschuh, Nicole; Kohl, Susanne; Meire, Françoise; Dahan, Karin; Depasse, Fanny; De Jaegere, Sarah; De Ravel, Thomy; De Rademaeker, Marjan; Loeys, Bart; Coppieters, Frauke; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 1(2015:Jan.)
Page Start:
39
Record Type:
Journal Article
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2. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice. Issue 3 (13th March 2015)

Authors:
De Leeneer, Kim; Hellemans, Jan; Steyaert, Wouter; Lefever, Steve; Vereecke, Inge; Debals, Eveline; Crombez, Brecht; Baetens, Machteld; Van Heetvelde, Mattias; Coppieters, Frauke; Vandesompele, Jo; De Jaegher, Annelies; De Baere, Elfride; Coucke, Paul; Claes, Kathleen
Journal:
Human mutation
Issue:
Volume 36:Issue 3(2015:Mar.)
Page Start:
379
Record Type:
Journal Article
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3. Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice. Issue 3 (March 2015)

Authors:
De Leeneer, Kim; Hellemans, Jan; Steyaert, Wouter; Lefever, Steve; Vereecke, Inge; Debals, Eveline; Crombez, Brecht; Baetens, Machteld; Van Heetvelde, Mattias; Coppieters, Frauke; Vandesompele, Jo; De Jaegher, Annelies; De Baere, Elfride; Coucke, Paul; Claes, Kathleen
Journal:
Human mutation
Issue:
Volume 36:Issue 3(2015:Mar.)
Page Start:
379
Record Type:
Journal Article
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4. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Issue 3 (12th December 2019)

Authors:
Bauwens, Miriam; Storch, Stephan; Weisschuh, Nicole; Ceuterick‐de Groote, Chantal; De Rycke, Riet; Guillemyn, Brecht; De Jaegere, Sarah; Coppieters, Frauke; Van Coster, Rudy; Leroy, Bart P.; De Baere, Elfride
Journal:
Clinical genetics
Issue:
Volume 97:Issue 3(2020)
Page Start:
426
Record Type:
Journal Article
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5. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility. Issue 5 (12th February 2020)

Authors:
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriële; Krysko, Olga; Van Laethem, Thalia; De Jaegere, Sarah; Guillemyn, Brecht; D...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
998
Record Type:
Journal Article
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6. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1. Issue 12 (1st October 2015)

Authors:
Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; De Bruyne, Marieke; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A.; Leroy, Bart P.; De Baere, Elfride
Journal:
Human mutation
Issue:
Volume 36:Issue 12(2015:Dec.)
Page Start:
1188
Record Type:
Journal Article
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8. Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. (3rd September 2021)

Authors:
De Zaeytijd, Julie; Coppieters, Frauke; De Bruyne, Marieke; Van Royen, Jasper; Roels, Dimitri; Six, Rani; Van Cauwenbergh, Caroline; De Baere, Elfride; Leroy, Bart P.
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 5(2021)
Page Start:
521
Record Type:
Journal Article
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9. The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. Issue 5 (6th February 2019)

Authors:
Naessens, Sarah; De Zaeytijd, Julie; Syx, Delfien; Vandenbroucke, Roosmarijn E.; Smeets, Frédéric; Van Cauwenbergh, Caroline; Leroy, Bart P.; Peelman, Frank; Coppieters, Frauke
Journal:
Human mutation
Issue:
Volume 40:Issue 5(2019)
Page Start:
539
Record Type:
Journal Article
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10. Vaccination with early ferroptotic cancer cells induces efficient antitumor immunity. Issue 2 (13th November 2020)

Authors:
Efimova, Iuliia; Catanzaro, Elena; Van der Meeren, Louis; Turubanova, Victoria D; Hammad, Hamida; Mishchenko, Tatiana A; Vedunova, Maria V; Fimognari, Carmela; Bachert, Claus; Coppieters, Frauke; Lefever, Steve; Skirtach, Andre G; Krysko, Olga; Krysko, Dmitri V
Journal:
Journal for immunotherapy of cancer
Issue:
Volume 8:Issue 2(2020)
Page Start:
Record Type:
Journal Article
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